developmental and epileptic encephalopathy 121

A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mu

A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23.

Signs and symptoms

• Hypotonia
• Appendicular hypotonia
• EEG with focal epileptiform discharges
• Delayed ability to sit
• Absent speech
• Generalized clonic seizure
• Primary microcephaly
• Limb hypertonia
• Spasticity
• Sudden death